Open AccessGenetic pediatric retinal diseases
Author(s) -
Emil Anthony T. Say
Publication year - 2015
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.3233/pge-14105
Subject(s) - medicine , retinal , retinopathy of prematurity , disease , retinal detachment , genetic testing , physical examination , pediatrics , ophthalmology , macular edema , pathology , surgery , genetics , pregnancy , biology , gestational age
Hereditary pediatric retinal diseases are a diverse group of disorders with pathologies affecting different cellular structures or retinal development. Many can mimic typical pediatric retinal disease such as retinopathy of prematurity, vitreous hemorrhage, retinal detachment and cystoid macular edema. Multisystem involvement is frequently seen in hereditary pediatric retinal disease. A thorough history coupled with a good physical examination can oftentimes lead the ophthalmologist or pediatrician to the correct genetic test and correct diagnosis. In some instances, evaluation of parents or siblings may be required to determine familial involvement when the history is inconclusive or insufficient and clinical suspicion is high.